Variant report

Variant	rs72770374
Chromosome Location	chr1:247372875-247372876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:247372778-247373356	PBDE	blood:	n/a	chr1:247372997-247373014 chr1:247372826-247372836
2	POLR2A	chr1:247372485-247373262	GM12878	blood:	n/a	n/a
3	MXI1	chr1:247372272-247375223	SK-N-SH	brain:	n/a	n/a
4	EP300	chr1:247372831-247374564	K562	blood:	n/a	n/a
5	USF1	chr1:247372868-247373258	K562	blood:	n/a	n/a
6	WRNIP1	chr1:247372676-247372944	GM12878	blood:	n/a	n/a
7	ZNF384	chr1:247372771-247373205	K562	blood:	n/a	n/a
8	USF2	chr1:247372771-247373209	Hela-S3	cervix:	n/a	n/a
9	USF1	chr1:247372758-247373177	K562	blood:	n/a	n/a
10	MYC	chr1:247372832-247373161	K562	blood:	n/a	n/a
11	ARID3A	chr1:247372815-247373190	K562	blood:	n/a	n/a
12	CHD2	chr1:247372812-247372884	GM12878	blood:	n/a	n/a
13	CCNT2	chr1:247372864-247373138	K562	blood:	n/a	chr1:247372997-247373017
14	POLR2A	chr1:247372362-247372950	GM12878	blood:	n/a	n/a
15	RCOR1	chr1:247372700-247373209	K562	blood:	n/a	n/a
16	BHLHE40	chr1:247372766-247373154	K562	blood:	n/a	n/a
17	ARID3A	chr1:247372853-247373119	HepG2	liver:	n/a	n/a
18	TEAD4	chr1:247372703-247373210	K562	blood:	n/a	n/a
19	TBL1XR1	chr1:247372849-247373202	K562	blood:	n/a	n/a
20	TAL1	chr1:247372806-247373388	K562	blood:	n/a	chr1:247373091-247373106 chr1:247372997-247373015
21	RCOR1	chr1:247372811-247373085	K562	blood:	n/a	n/a
22	MAX	chr1:247372660-247372990	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:247366973..247371599-chr1:247371697..247375755,6	MCF-7	breast:
2	chr1:247338400..247340247-chr1:247370932..247373277,2	K562	blood:
3	chr1:247371399..247373319-chr1:247494315..247496686,3	K562	blood:
4	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
5	chr1:247361273..247363730-chr1:247370221..247373518,3	K562	blood:
6	chr1:247274493..247276812-chr1:247371838..247375899,3	K562	blood:
7	chr1:247371506..247373896-chr1:247494793..247496492,2	K562	blood:
8	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3916	TF binding region
RNA5SP82	TF binding region
ENSG00000221953	Chromatin interaction
ENSG00000252516	Chromatin interaction
ENSG00000227671	Chromatin interaction
ENSG00000224014	Chromatin interaction
ENSG00000162714	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12083552	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17720872	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41305576	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55876066	0.82[EUR][1000 genomes]
rs55932854	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56036028	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56123640	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56130102	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56212015	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56358623	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61087736	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72770359	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72770361	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72770366	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72770367	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72770371	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72770379	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72770384	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72770390	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72770391	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
3	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
6	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
8	esv3336179	chr1:247195262-247373269	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
10	nsv873436	chr1:247339064-247385877	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247362400-247373400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:247371200-247373000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:247371800-247373200	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:247372000-247373000	Genic enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:247372000-247373000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:247372000-247373600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:247372200-247373000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:247372200-247373000	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr1:247372200-247373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:247372200-247373200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:247372200-247373400	Enhancers	Stomach Mucosa	stomach
12	chr1:247372200-247373600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr1:247372200-247373600	Flanking Active TSS	Hela-S3	cervix
14	chr1:247372400-247373000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:247372400-247373000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:247372400-247373000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:247372400-247373000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:247372400-247373000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr1:247372400-247373000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
20	chr1:247372400-247373000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:247372400-247373000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:247372400-247373000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:247372400-247373000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:247372400-247373000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:247372400-247373000	Enhancers	Fetal Heart	heart
26	chr1:247372400-247373000	Genic enhancers	Fetal Intestine Small	intestine
27	chr1:247372400-247373000	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr1:247372400-247373000	Genic enhancers	Fetal Muscle Leg	muscle
29	chr1:247372400-247373000	Genic enhancers	Fetal Stomach	stomach
30	chr1:247372400-247373000	Enhancers	Ovary	ovary
31	chr1:247372400-247373000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:247372400-247373000	Flanking Active TSS	Right Atrium	heart
33	chr1:247372400-247373000	Enhancers	Spleen	Spleen
34	chr1:247372400-247373000	Active TSS	NHLF	lung
35	chr1:247372400-247373200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:247372400-247373200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:247372400-247373200	Enhancers	Aorta	Aorta
38	chr1:247372400-247373200	Enhancers	Liver	Liver
39	chr1:247372400-247373200	Enhancers	Esophagus	oesophagus
40	chr1:247372400-247373200	Enhancers	Fetal Intestine Large	intestine
41	chr1:247372400-247373200	Enhancers	Fetal Lung	lung
42	chr1:247372400-247373200	Enhancers	Placenta	Placenta
43	chr1:247372400-247373200	Enhancers	Gastric	stomach
44	chr1:247372400-247373200	Enhancers	Left Ventricle	heart
45	chr1:247372400-247373200	Flanking Active TSS	Thymus	Thymus
46	chr1:247372400-247373400	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr1:247372400-247373400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr1:247372400-247373400	Flanking Active TSS	HMEC	breast
49	chr1:247372400-247373600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:247372400-247373600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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